Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Microtubule Associated Proteins (MAPs)01:42

Microtubule Associated Proteins (MAPs)

4.3K
Microtubule function and architecture are regulated by an array of specialized proteins called microtubule-associated proteins or MAPs. These proteins are widespread across different organisms and have conserved protein motifs, like the multi-TOG domain for tubulin binding found in the CLASP family of MAPs. Some MAPs are lineage-specific based on their conserved domains. Their functions depend upon the cytoskeletal architecture and cell type they are located within. In-plant cells, a specific...
4.3K
Master Transcription Regulators02:23

Master Transcription Regulators

6.9K
Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
6.9K
MAPK Signaling Cascades01:07

MAPK Signaling Cascades

5.5K
Mitogen-activated protein kinase, or MAPK pathway, activates three sequential kinases to regulate cellular responses such as proliferation, differentiation, survival, and apoptosis. The canonical MAPK pathway starts with a mitogen or growth factor binding to an RTK. The activated RTKs stimulate Ras, which recruits Raf or MAP3 Kinase (MAPKKK), the first kinase of the MAPK signaling cascade. Raf further phosphorylates and activates MEK or MAP2 Kinases (MAPKK), which in turn phosphorylates MAP...
5.5K
Regulated mRNA Transport02:22

Regulated mRNA Transport

6.3K
In eukaryotes, transcription and translation are compartmentalized; an mRNA is first synthesized in the nucleus and then selectively transported to the cytoplasm for protein synthesis. Before transport, a pre-mRNA undergoes several steps of post-transcriptional modifications including splicing, 5' capping, and the addition of a poly-adenine tail. Various proteins bind to the pre-mRNA during these modifications. The mRNA transport takes place with the help of multiple proteins playing...
6.3K
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

9.9K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
9.9K
Interactions Between Signaling Pathways01:19

Interactions Between Signaling Pathways

6.3K
Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
6.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

KOLF2.1J iTF-Microglia: A standardized platform to study microglial transcriptional regulatory networks in CNS disease.

iScience·2026
Same author

Editorial: Fundamentals and Advances in Cardiopulmonary Rehabilitation.

Frontiers in rehabilitation sciences·2026
Same author

Human TDP-43 expression worsens FTD-related phenotypes in progranulin-insufficient mice.

Neurobiology of disease·2026
Same author

Early onset rapidly progressive frontotemporal dementia due to a novel MAPT P301A variant with functional validation of pathogenicity.

NPJ dementia·2026
Same author

Promoter mutagenesis and a massively parallel reporter screen of the <i>MAPT</i> locus identifies cis-regulatory elements and genetic variation effects.

bioRxiv : the preprint server for biology·2026
Same author

Integrative genomic and functional analyses reveal NINL as a modulator of tau aggregation.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Related Experiment Video

Updated: Jul 5, 2025

Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models
13:47

Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models

Published on: March 29, 2019

9.6K

Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements.

Brianne B Rogers1, Ashlyn G Anderson2, Shelby N Lauzon2

  • 1HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA; University of Alabama at Birmingham, Birmingham, AL 35294, USA.

American Journal of Human Genetics
|January 17, 2024
PubMed
Summary

Researchers identified regulatory elements controlling MAPT gene expression, crucial for understanding tauopathies. Genetic variations in these elements may offer protection against neurodegenerative diseases by reducing MAPT expression.

Keywords:
Alzheimer diseaseMAPTenhancergene regulationneuron

More Related Videos

A Rapid In Vivo Bioassay for Developmentally Active Enhancers
00:08

A Rapid In Vivo Bioassay for Developmentally Active Enhancers

1.3K
Isolation of CA1 Nuclear Enriched Fractions from Hippocampal Slices to Study Activity-dependent Nuclear Import of Synapto-nuclear Messenger Proteins
10:03

Isolation of CA1 Nuclear Enriched Fractions from Hippocampal Slices to Study Activity-dependent Nuclear Import of Synapto-nuclear Messenger Proteins

Published on: August 10, 2014

12.1K

Related Experiment Videos

Last Updated: Jul 5, 2025

Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models
13:47

Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models

Published on: March 29, 2019

9.6K
A Rapid In Vivo Bioassay for Developmentally Active Enhancers
00:08

A Rapid In Vivo Bioassay for Developmentally Active Enhancers

1.3K
Isolation of CA1 Nuclear Enriched Fractions from Hippocampal Slices to Study Activity-dependent Nuclear Import of Synapto-nuclear Messenger Proteins
10:03

Isolation of CA1 Nuclear Enriched Fractions from Hippocampal Slices to Study Activity-dependent Nuclear Import of Synapto-nuclear Messenger Proteins

Published on: August 10, 2014

12.1K

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Tauopathies are neurodegenerative diseases characterized by abnormal tau protein aggregates, encoded by the MAPT gene.
  • MAPT gene expression increases during neural differentiation, suggesting cell-type-specific regulatory control.
  • Understanding MAPT regulation is vital for neurodegeneration pathogenesis and disease risk assessment.

Purpose of the Study:

  • To identify cis-regulatory elements (cCREs) controlling MAPT expression in differentiated neurons.
  • To functionally validate the regulatory role of identified cCREs on MAPT.
  • To investigate the association of genetic variations within cCREs with neurodegenerative disease risk.

Main Methods:

  • Chromatin conformation assays (Hi-C, Capture-C)
  • Single-nucleus multiomics (RNA-seq, ATAC-seq)
  • Bulk ATAC-seq, ChIP-seq (H3K27ac, CTCF)
  • Luciferase assays and CRISPR interference (CRISPRi) for functional validation
  • Analysis of genetic variation in neurodegeneration cohorts

Main Results:

  • Identified proximal and distal cCREs regulating MAPT expression.
  • Confirmed regulatory function of several cCREs, including regions beyond the H1/H2 haplotype inversion.
  • Found depletion of rare, damaging variants in cCREs among dementia-affected individuals, suggesting a protective role.

Conclusions:

  • Discovered novel cis-regulatory elements controlling MAPT expression.
  • Demonstrated that variants disrupting MAPT enhancer activity may be protective against neurodegenerative diseases.
  • Highlights the importance of detailed cCRE knowledge for understanding gene regulation and disease risk.